Table 2.

Overview of Clinical Features and Pathogenic Variants Identified in the Study Cohort

Working Diagnosis	Genital Phenotype	Müllerian Structures	Gene	Sequence Variation	Genotype	Inheritance	gnomAD Allele Frequency	SIFT	PolyPhen-2	Mutation Taster
CGD	Female	Present	SRY	p.R62P	Hemizygous	Sporadic	0	Damaging (0)	Probably damaging (1)	Disease causing
				c.185G>C
CGD	Female	Present	SRY	p.N65D	Hemizygous	Sporadic	0	Damaging (0)	Probably damaging (0.998)	Disease causing
				c.193A>G
CGD	Female	Present	SRY	p.L204fs*211 p.L204PLDKANG*	Hemizygous	Sporadic	0	N/A	N/A	N/A
CGD	Female	Present	DMRT1	p.R80S	Heterozygous	Sporadic	0	Damaging (0)	Probably damaging (0.997)	Disease causing
				c.240G>C
CGD	Female	Present	NR5A1	p.A280E	Heterozygous	Sporadic	0	Damaging (0)	Probably damaging (1)	Disease causing
				c.839C>A
CGD	Female	Present	DHH	P.F242L	Homozygous	Sporadic	0	Damaging (0.014)	Probably damaging (0.997)	Disease causing
				c.724T>C
pvDSD	Partially virilized	Absent	NR5A1a	p.G22D	Heterozygous	Sporadic	0	Damaging (0)	Probably damaging (1)	Disease causing
				c.65G>A
pvDSD	Partially virilized	Absent	NR5A1	p.R281C	Heterozygous	Sporadic	0	Damaging (0)	Probably damaging (1)	Disease causing
				c.841C>T
pvDSD	Partially virilized	Absent	NR5A1	p.G328R c.982G>C	Heterozygous	Sporadic	0	Damaging (0)	Probably damaging (1)	Disease causing
pvDSD	Partially virilized	Absent	NR5A1	p.E367Sfs*15 c.1099delG	Heterozygous	Sporadic	0	N/A	N/A	N/A
pvDSD	Virilization at puberty	Absent	NR5A1	p.L420P	Heterozygous	Familial (SLD)	0	Damaging (0)	Probably damaging (1)	Disease causing
				c.1259T>C
pvDSD	Partially virilized, further virilization at puberty	Absent	DHH	p.R245P	Compound heterozygous	Sporadic	0	Damaging (0.002)	Probably damaging (0.999)	Disease causing
				c.734G>C
				p.A227V			2/30,956	Tolerated (0.101)	Possibly damaging (0.904)	Disease causing
				c.680C>T
pvDSD	Partially virilized	Absent	DHX37b	p.R308Q	Heterozygous	Sporadic	1/30,936	Damaging (0)	Probably damaging (1)	Disease causing
				c.923G>A
pvDSD	Partially virilized	Absent	DHX37b	p.R308Q	Heterozygous	Sporadic	1/30,936	Damaging (0)	Probably damaging (1)	Disease causing
				c.923G>A
pvDSD	Partially virilized	Vaginal septum/uterine didelphys	DHX37b	p.R308Q	Heterozygous	Sporadic	1/30,936	Damaging (0)	Probably damaging (1)	Disease causing
				c.923G>A
pvDSD	Partially virilized	Absent	DHX37	p.T477M	Heterozygous	Sporadic	0	Damaging (0)	Probably damaging (1)	Disease causing
				c.1430C>T

Abbreviations: N/A, not applicable; SLD, sex-limited dominant.

^aAlso heterozygous for a c.1305G>T, p.E435D variant that is predicted to be benign.

^bPreviously published [40].